Incidental Mutation 'IGL03241:Slc36a3'
| ID |
414286 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Slc36a3
|
| Ensembl Gene |
ENSMUSG00000049491 |
| Gene Name |
solute carrier family 36 (proton/amino acid symporter), member 3 |
| Synonyms |
TRAMD2, PAT3, tramdorin2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.124)
|
| Stock # |
IGL03241
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
55015641-55042534 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 55015934 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 407
(S407P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000020502
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020502]
[ENSMUST00000128244]
|
| AlphaFold |
Q811P0 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000020502
AA Change: S407P
PolyPhen 2
Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000020502
Gene: ENSMUSG00000049491
AA Change: S407P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
44 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
50 |
459 |
7.2e-66 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000121611
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000128244
|
| SMART Domains |
Protein: ENSMUSP00000116073
Gene: ENSMUSG00000049491
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
19 |
44 |
N/A |
INTRINSIC |
|
Pfam:Aa_trans
|
50 |
87 |
2.7e-7 |
PFAM |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
A |
8: 87,236,436 (GRCm39) |
E1126V |
possibly damaging |
Het |
| Acnat1 |
A |
G |
4: 49,447,702 (GRCm39) |
V275A |
probably benign |
Het |
| Adamts15 |
G |
A |
9: 30,815,781 (GRCm39) |
P692S |
probably damaging |
Het |
| Aqp7 |
A |
T |
4: 41,045,270 (GRCm39) |
|
probably benign |
Het |
| Arhgap26 |
A |
T |
18: 39,362,970 (GRCm39) |
I413F |
probably damaging |
Het |
| Cdc25a |
T |
C |
9: 109,713,267 (GRCm39) |
|
probably null |
Het |
| Cdh18 |
C |
T |
15: 23,227,019 (GRCm39) |
T160I |
probably benign |
Het |
| Cfap206 |
T |
C |
4: 34,711,553 (GRCm39) |
Y448C |
probably damaging |
Het |
| Clec4a4 |
T |
C |
6: 122,967,332 (GRCm39) |
S3P |
probably damaging |
Het |
| Dhx38 |
A |
T |
8: 110,289,288 (GRCm39) |
H37Q |
possibly damaging |
Het |
| F7 |
A |
T |
8: 13,078,779 (GRCm39) |
E70V |
probably damaging |
Het |
| Nbeal1 |
A |
T |
1: 60,274,027 (GRCm39) |
Q418H |
possibly damaging |
Het |
| Nbeal1 |
G |
A |
1: 60,274,028 (GRCm39) |
E419K |
probably benign |
Het |
| Nebl |
A |
G |
2: 17,397,975 (GRCm39) |
|
probably null |
Het |
| Or4k15b |
T |
A |
14: 50,272,525 (GRCm39) |
M112L |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,021,061 (GRCm39) |
V293A |
probably benign |
Het |
| Slc5a1 |
T |
C |
5: 33,290,749 (GRCm39) |
V111A |
probably benign |
Het |
| St6galnac5 |
G |
T |
3: 152,552,223 (GRCm39) |
Q115K |
probably benign |
Het |
| Tex56 |
G |
T |
13: 35,128,313 (GRCm39) |
A177S |
probably damaging |
Het |
| Timmdc1 |
G |
A |
16: 38,331,071 (GRCm39) |
|
probably benign |
Het |
| Trim34b |
T |
C |
7: 103,983,820 (GRCm39) |
|
probably benign |
Het |
| Trim75 |
A |
T |
8: 65,435,358 (GRCm39) |
I364N |
probably damaging |
Het |
| Vmn1r27 |
T |
A |
6: 58,192,126 (GRCm39) |
N293Y |
probably benign |
Het |
| Vmn2r88 |
A |
G |
14: 51,655,830 (GRCm39) |
T689A |
probably benign |
Het |
| Vmn2r97 |
T |
C |
17: 19,148,438 (GRCm39) |
V111A |
probably benign |
Het |
| Zfp114 |
C |
T |
7: 23,880,437 (GRCm39) |
T261I |
probably benign |
Het |
| Zfp516 |
A |
G |
18: 83,005,645 (GRCm39) |
T850A |
probably benign |
Het |
|
| Other mutations in Slc36a3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03104:Slc36a3
|
APN |
11 |
55,015,946 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0632:Slc36a3
|
UTSW |
11 |
55,015,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1117:Slc36a3
|
UTSW |
11 |
55,037,006 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R1549:Slc36a3
|
UTSW |
11 |
55,033,596 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3423:Slc36a3
|
UTSW |
11 |
55,033,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3425:Slc36a3
|
UTSW |
11 |
55,033,607 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3791:Slc36a3
|
UTSW |
11 |
55,015,982 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R3980:Slc36a3
|
UTSW |
11 |
55,026,209 (GRCm39) |
missense |
probably benign |
|
|
R4970:Slc36a3
|
UTSW |
11 |
55,039,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4973:Slc36a3
|
UTSW |
11 |
55,037,630 (GRCm39) |
splice site |
probably benign |
|
|
R4986:Slc36a3
|
UTSW |
11 |
55,037,592 (GRCm39) |
makesense |
probably null |
|
|
R5112:Slc36a3
|
UTSW |
11 |
55,039,399 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5399:Slc36a3
|
UTSW |
11 |
55,037,006 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R5534:Slc36a3
|
UTSW |
11 |
55,033,595 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R5580:Slc36a3
|
UTSW |
11 |
55,026,279 (GRCm39) |
missense |
probably benign |
0.14 |
|
R5682:Slc36a3
|
UTSW |
11 |
55,016,489 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5779:Slc36a3
|
UTSW |
11 |
55,026,094 (GRCm39) |
nonsense |
probably null |
|
|
R5841:Slc36a3
|
UTSW |
11 |
55,016,547 (GRCm39) |
nonsense |
probably null |
|
|
R6228:Slc36a3
|
UTSW |
11 |
55,015,777 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6483:Slc36a3
|
UTSW |
11 |
55,026,089 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6908:Slc36a3
|
UTSW |
11 |
55,040,712 (GRCm39) |
intron |
probably benign |
|
|
R6927:Slc36a3
|
UTSW |
11 |
55,020,519 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R7828:Slc36a3
|
UTSW |
11 |
55,042,024 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7995:Slc36a3
|
UTSW |
11 |
55,020,495 (GRCm39) |
missense |
probably benign |
0.04 |
|
R8212:Slc36a3
|
UTSW |
11 |
55,015,907 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8238:Slc36a3
|
UTSW |
11 |
55,022,433 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8239:Slc36a3
|
UTSW |
11 |
55,022,433 (GRCm39) |
missense |
probably benign |
0.05 |
|
R8329:Slc36a3
|
UTSW |
11 |
55,039,409 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8929:Slc36a3
|
UTSW |
11 |
55,028,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9034:Slc36a3
|
UTSW |
11 |
55,016,515 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9489:Slc36a3
|
UTSW |
11 |
55,040,726 (GRCm39) |
missense |
unknown |
|
|
R9506:Slc36a3
|
UTSW |
11 |
55,039,457 (GRCm39) |
missense |
probably benign |
0.14 |
|
R9661:Slc36a3
|
UTSW |
11 |
55,015,984 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9696:Slc36a3
|
UTSW |
11 |
55,026,161 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R9735:Slc36a3
|
UTSW |
11 |
55,026,104 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Slc36a3
|
UTSW |
11 |
55,026,278 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Posted On |
2016-08-02 |
Incidental Mutation